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Thomas Smol

Showing results (51-60 of 92) with videos related to

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Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Clinical Genetics|December 5, 2020
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutationsAurore Garde, Jenny Cornaton, Arthur Sorlin, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
Pageof 10

Showing results (51-60 of 92) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|July 29, 2021
Delineating the genotypic and phenotypic spectrum of <i>HECW2</i>-related neurodevelopmental disordersAnushree Acharya, Haluk Kavus, Patrick Dunn, et al.
Kidney International|March 1, 2022
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tractJohannes Münch, Marie Engesser, Ria Schönauer, et al.
Journal of Medical Genetics|January 26, 2017
<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disabilityDaphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, et al.
Clinical Genetics|September 10, 2025
LONP1 Variants Are Associated With Clinically Diverse PhenotypesRandee E Young, Lu Qiao, Rebecca Hernan, et al.
Clinical Genetics|April 26, 2022
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort studyGuillaume Jouret, Solveig Heide, Arthur Sorlin, et al.
Clinical Genetics|December 5, 2020
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutationsAurore Garde, Jenny Cornaton, Arthur Sorlin, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
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